In Brazil, several recurring mutations in BRCA1 and BRCA2 and a TP53 mutation (R337H) have been reported in high risk breast cancer cases. We hypothesized that these recurring mutations may also be detected in the general population and ovarian cancer cases in the state of Minas Gerais. To test this notion, participants were recruited from the outpatient and the Gynecological clinic in the UFMG Medical Center in Belo Horizonte, Minas Gerais, Brazil. BRCA1 (c.68_69delAG, c.5266dupC, c.181T>G, c.4034delA, c.5123C>A), BRCA2 (c.5946delT, c.8537_8538delAG, 4936_4939delGAAA), the c.156_157insAlu* BRCA2 and the c.1010G>A *TP53 mutation were genotyped using validated techniques. Overall, 513 cancer free participants (273 men) (mean age 47.7 ± 15.1 years) and 103 ovarian cancer cases (mean age at diagnosis 58.7 ± 9.6 years) were studied. None of the participants were found to carry any of the genotyped mutations. We conclude that the recurring mutations in BRCA1, BRCA2 and TP53 cannot be detected in the general population or consecutive ovarian cancer cases in this geographical region in Brazil.
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Published online: November 16, 2015
Accepted: November 9, 2015
Received in revised form: November 4, 2015
Received: September 22, 2015
© 2016 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
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- Commentary regarding Schayek et al., entitled “The rate of recurrent BRCA1, BRCA2, and TP53 mutations in the general population, and unselected ovarian cancer cases, in Belo Horizonte, Brazil”Cancer GeneticsVol. 209Issue 6
- PreviewRecently, Schayek et al. (1) published a short communication about selected mutations in BRCA1, BRCA2 and TP53 in ovarian cancer (OC) cases and in a group of cancer-unaffected patients visiting a single health care center in the state of Minas Gerais (MG), Brazil. The authors did not find any of the mutations studied among 513 individuals evaluated and they concluded that “the recurring mutations in BRCA1, BRCA2 and TP53 cannot be detected in the general population or consecutive OC cases in this geographical region in Brazil”.